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Due to the high prevalence of hemochromatosis, its genetic diagnosis has become a challenge, especially in the high-risk group.

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The authors conducted a flow cytometry immunophenotyping study in patients with acute lymphoblastic leukemia (ALL) from Natal, Rio Grande do Norte, Brazil. The patients (n = 126) were newly diagnosed using a panel of monoclonal antibodies: CD1a, CD2, CD3, CD4, CD7, CD8, CD10, CD13, CD33, CD14, CD19, CD22, CD79a, CD117, CD34, anti-IgM, anti-TdT, anti-HLA-Dr, and anti-human kappa and lambda light chains. Additional data, such as patients' age and gender, clinical and laboratory findings such as presence of tumor masses, lymphadenopathy, hepatomegaly, splenomegaly, leukemic infiltration in the central nervous system (CNS) were also investigated. Results showed that 56.7% of the cases were B-lineage ALL and 55% were T-cell ALL. Also, we found that males were more affected by the disease, regardless of immunological classification. The correlation between age and immunological subtypes showed that the B-lineage ALL occurred more frequently in patients aged under 15 while the T-cell ALL subtype was more frequent in adults. Immunophenotypic profiles and morphological subtypes showed a direct correlation between L3 subtype and B-lineage ALL, while L1 and L2 subtypes correlated more often with B-cell lineage and T-cell ALL, respectively. Correlation analysis between immunophenotypic and clinical profiles showed that T-cell ALL was more associated with a higher incidence of lymphadenopathy, hepatomegaly, splenomegaly and CNS leukemic infiltration, also showing a greater blast cell count in peripheral blood than the other subgroups. The presented data suggest that immunophenotyping is an important method in the diagnosis, monitoring and prognostic assessment in determining the pathological mechanisms of evolution of ALL.

Clinical manifestations of visceral leishmaniasis (VL) usually include splenomegaly. We report a case of a woman from an endemic area with fever but normal splenic size. This is rare, especially in patients not immunocompromised.

Introduction: An epidemiological database is an important tool to characterize the population disease distribution, long-term effects of the diseases, impact of evolving treatments, to identify adverse events (AE) and their possible mitigation and to improve the healthcare system. Another important reason to create a database is to rapidly identify, recruit and enroll individuals for research activities. Based on these, the Brazilian Multiple Myeloma Study Group (GBRAM) developed an electronic database platform with the intention of prospectively registering the MM cases diagnosed at Brazilian healthcare services. Methods: This is a prospective, multicenter, open, epidemiological study, based on an electronic system register. Patients diagnosed with MM after January 1, 2018 have been included. The eligibility criteria were: intent-to-treat (ITT) MM patients, aged over 18 years and under care in any healthcare system (private, public and academic). All clinical and laboratory data, prognostic profiling, treatment patterns and responses, AE and survival were compiled. The data were analyzed with the NCSS® 2020 software. This project is registered in the Brazilian study platform control (Plataforma Brasil) linked to federal health authorities by the number CAAE-05340918.3.1001.8098. Results: To date, 1,113 patients at 44 reference centers were included. The median age was 64 (25 -96) years and 578 (52%) were male. According to the ECOG performance status: 0 = 185 (16.5%), 1 = 257 (23.2%), 2 = 144 (13%), 3 = 105 (9.5%), 4 = 62 (5.5%) and the not available data (NA) = 359 (32.3%). The ISS 1, 2, and 3 were 219 (19.7%), 286 (25.7%) and 406 (36.5%), respectively, the NA being 202 (18.1%). MM isotypes were 524 (47.1%) IgG, 202 (18.2%) IgA, 192 (17.2%) free-light chain, 4 (0.5%) IgM, 7 (0.8%) biclonal, 9 (0.7%) non-secretor and 175 (15.5%) NA. Regarding the treatment backbone, 427 (38.4%) patients received immunomodulators (IMID- thalidomide), 277 (20.4%), proteasome inhibitors (PI-bortezomib), 84 (7.6%), the combination of PI + IMID, 72 (6.6%), combinations with anti-CD38 monoclonal antibody (Daratumumab) and 253 (27%), other treatments. Based on the ITT analysis of 1003 cases, 636 (63.4%) patients were planned for bone marrow transplantation (BMT) and 367 (36.6%) were ineligible. After a median follow-up of 14.0 months, 150 (23.6%) of the planned patients had undergone the procedure, 284 (44.7%) had not yet been submitted and 202 (31.7%) had NA data. The overall survival (OS) was 80.9% for the total group at 20 months, 73.5% for ineligible and 95.5% for eligible. There was a significant improvement in eligible patients who had performed BMT, as compared to those who had not, HR 0.15 (0.09 - 0.26), p < 0.0001. A total of 142 deaths (12.8%) occurred, 51 (36%) of them being during the first 180 days. Discussion: Due to the lack of a reliable national register and the undoubtable need for a better understanding of MM for the development of public health and patient support measures, GBRAM has developed and built an electronic platform. This epidemiological study prospectively enrolled patients diagnosed since January 2018 and is of a nationwide scope. To date, 1,113 new cases were included. Despite the short follow-up, this analysis has identified differences in survival, comparing ISS stratifications and whether a BMT was performed or not. Conclusion: This project demonstrates the feasibility and importance of electronic platforms in the compilation of MM populational data for a better understanding of the clinical characteristics, treatment patterns and outcomes in the real world, permitting a clearer perception of local issues and thus, addressing possible improvement in public healthcare policy, such as the improvement of BMT access. Disclosures De Queiroz Crusoe: Janssen: Research Funding. Aranha:Janssen: Honoraria, Membership on an entity's Board of Directors or advisory committees; Ache Pharmaceutics: Honoraria.

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